M27I (p.Met27Ile) variant of KCNE1 (P15382)
M27I (p.Met27Ile) in KCNE1 (P15382) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M27I (p.Met27Ile) variant details
- p.Met27Ile
- gnomAD 21-34449554-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.61
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.36
- Literature evidence available